| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.28783934A>T | CA10586684 | PPP1CB,SPDYA | c.548A>T (p.Glu183Val) c.*508A>T (n.*508A>T) c.464A>T (p.Glu155Val) c.*595A>T (n.*595A>T) c.671A>T (p.Glu224Val) c.515A>T (p.Glu172Val) n.431A>T n.375A>T | ClinVar dbSNP COSMIC |
| 2 | g.28783934A>C | CA10586683 | PPP1CB,SPDYA | c.548A>C (p.Glu183Ala) c.*508A>C (n.*508A>C) c.464A>C (p.Glu155Ala) c.*595A>C (n.*595A>C) c.671A>C (p.Glu224Ala) c.515A>C (p.Glu172Ala) n.431A>C n.375A>C | ClinVar dbSNP |
| 2 | g.28783934A= | CA1240878273 | PPP1CB,SPDYA | c.548A= (p.Glu183=) c.*508A= (n.*508A=) c.464A= (p.Glu155=) c.*595A= (n.*595A=) c.671A= (p.Glu224=) c.515A= (p.Glu172=) n.431A= n.375A= | dbSNP |